ClinVar Miner

List of variants in gene RYR2 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 240
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HGVS dbSNP
GRCh37/hg19 1q43(chr1:237205045-237519680)x3
NM_001035.2(RYR2):c.8596_8598delGGA (p.Gly2866del) rs794728836
NM_001035.3(RYR2):c.10024G>C (p.Ala3342Pro) rs779445295
NM_001035.3(RYR2):c.10043T>G (p.Met3348Arg) rs794728767
NM_001035.3(RYR2):c.10051G>A (p.Ala3351Thr) rs1057524349
NM_001035.3(RYR2):c.10258G>A (p.Val3420Ile) rs397516497
NM_001035.3(RYR2):c.10266G>C (p.Gln3422His) rs368064371
NM_001035.3(RYR2):c.10373G>A (p.Arg3458Gln) rs762944627
NM_001035.3(RYR2):c.10488T>G (p.Phe3496Leu) rs794728768
NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr) rs115622575
NM_001035.3(RYR2):c.10528C>A (p.Arg3510Ser) rs201749277
NM_001035.3(RYR2):c.10529G>A (p.Arg3510His) rs375947003
NM_001035.3(RYR2):c.10640C>T (p.Thr3547Met) rs552050895
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln) rs727503404
NM_001035.3(RYR2):c.10700G>A (p.Arg3567His) rs577371071
NM_001035.3(RYR2):c.10897G>A (p.Glu3633Lys) rs748501600
NM_001035.3(RYR2):c.10913A>C (p.Asp3638Ala) rs1064793255
NM_001035.3(RYR2):c.10970G>A (p.Gly3657Asp) rs876661020
NM_001035.3(RYR2):c.11018G>A (p.Arg3673Gln) rs778111237
NM_001035.3(RYR2):c.11024C>G (p.Ala3675Gly) rs794728770
NM_001035.3(RYR2):c.11054A>T (p.Asp3685Val) rs1057523884
NM_001035.3(RYR2):c.11116G>A (p.Asp3706Asn) rs942040362
NM_001035.3(RYR2):c.11140T>G (p.Phe3714Val) rs794728771
NM_001035.3(RYR2):c.11222T>C (p.Leu3741Pro) rs794728772
NM_001035.3(RYR2):c.11225A>C (p.Gln3742Pro) rs794728773
NM_001035.3(RYR2):c.11318T>C (p.Val3773Ala) rs794728774
NM_001035.3(RYR2):c.11342T>G (p.Leu3781Arg) rs1553313411
NM_001035.3(RYR2):c.1144G>A (p.Val382Met) rs370057029
NM_001035.3(RYR2):c.11497G>A (p.Asp3833Asn) rs768711283
NM_001035.3(RYR2):c.11515C>T (p.Leu3839Phe) rs1064796484
NM_001035.3(RYR2):c.11570A>G (p.Tyr3857Cys) rs587782975
NM_001035.3(RYR2):c.11710C>T (p.Arg3904Trp) rs998659755
NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly) rs374306538
NM_001035.3(RYR2):c.1178T>G (p.Met393Arg) rs794728815
NM_001035.3(RYR2):c.11812A>C (p.Ser3938Arg) rs794728825
NM_001035.3(RYR2):c.11919T>G (p.Asp3973Glu) rs370103782
NM_001035.3(RYR2):c.11989A>G (p.Lys3997Glu) rs1064794210
NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr) rs375021201
NM_001035.3(RYR2):c.1217C>T (p.Ser406Leu) rs759830423
NM_001035.3(RYR2):c.1220G>T (p.Arg407Ile) rs794728720
NM_001035.3(RYR2):c.12215C>T (p.Thr4072Met) rs928224285
NM_001035.3(RYR2):c.12217G>A (p.Asp4073Asn) rs768341298
NM_001035.3(RYR2):c.12239A>G (p.Tyr4080Cys) rs794728781
NM_001035.3(RYR2):c.12245A>C (p.Glu4082Ala) rs1057524762
NM_001035.3(RYR2):c.12272C>T (p.Ala4091Val) rs794728783
NM_001035.3(RYR2):c.12373G>T (p.Val4125Phe) rs775417996
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) rs764698152
NM_001035.3(RYR2):c.1241G>T (p.Arg414Leu) rs371121679
NM_001035.3(RYR2):c.12427A>C (p.Lys4143Gln) rs750908017
NM_001035.3(RYR2):c.12551A>G (p.Glu4184Gly) rs794728789
NM_001035.3(RYR2):c.12608C>T (p.Ala4203Val) rs794728792
NM_001035.3(RYR2):c.12611C>T (p.Ala4204Val) rs794728793
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del) rs794728838
NM_001035.3(RYR2):c.12917T>C (p.Phe4306Ser) rs776091285
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869
NM_001035.3(RYR2):c.12944G>A (p.Gly4315Glu) rs766109950
NM_001035.3(RYR2):c.13057C>T (p.Pro4353Ser) rs794728794
NM_001035.3(RYR2):c.13081G>A (p.Glu4361Lys) rs794728795
NM_001035.3(RYR2):c.1319C>T (p.Ala440Val) rs758904216
NM_001035.3(RYR2):c.13237C>A (p.Pro4413Thr) rs773441342
NM_001035.3(RYR2):c.13276_13278GAA[2] (p.Glu4428del) rs869025516
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775
NM_001035.3(RYR2):c.13315C>A (p.Pro4439Thr) rs746608828
NM_001035.3(RYR2):c.13325C>T (p.Ala4442Val) rs1553324230
NM_001035.3(RYR2):c.13411G>A (p.Gly4471Arg) rs794728797
NM_001035.3(RYR2):c.1342C>G (p.Pro448Ala) rs369933531
NM_001035.3(RYR2):c.13516G>C (p.Ala4506Pro) rs794728829
NM_001035.3(RYR2):c.13573_13575TCT[1] (p.Ser4526del) rs749495172
NM_001035.3(RYR2):c.13600C>T (p.Pro4534Ser) rs199624074
NM_001035.3(RYR2):c.13666G>C (p.Ala4556Pro) rs189345192
NM_001035.3(RYR2):c.13666G>T (p.Ala4556Ser) rs189345192
NM_001035.3(RYR2):c.13735C>T (p.His4579Tyr) rs794728830
NM_001035.3(RYR2):c.13890G>C (p.Trp4630Cys) rs794728800
NM_001035.3(RYR2):c.1392C>A (p.His464Gln) rs749032742
NM_001035.3(RYR2):c.1396C>G (p.Pro466Ala) rs376612295
NM_001035.3(RYR2):c.13984G>A (p.Gly4662Ser) rs886039213
NM_001035.3(RYR2):c.14000G>T (p.Ser4667Ile) rs1057523888
NM_001035.3(RYR2):c.14066A>G (p.Lys4689Arg) rs1085307711
NM_001035.3(RYR2):c.14101A>G (p.Ile4701Val) rs755065507
NM_001035.3(RYR2):c.14306T>C (p.Leu4769Ser) rs1057524347
NM_001035.3(RYR2):c.14372A>T (p.Lys4791Ile) rs1057524525
NM_001035.3(RYR2):c.14465G>A (p.Arg4822His) rs794728805
NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln) rs752144775
NM_001035.3(RYR2):c.14557_14559del (p.Phe4853del) rs1085307458
NM_001035.3(RYR2):c.14569A>G (p.Ile4857Val) rs1085307524
NM_001035.3(RYR2):c.14635C>A (p.Gln4879Lys) rs730880200
NM_001035.3(RYR2):c.14655+5G>C rs1404208611
NM_001035.3(RYR2):c.14695G>C (p.Asp4899His) rs794728807
NM_001035.3(RYR2):c.1476+4C>T rs369442980
NM_001035.3(RYR2):c.14845T>C (p.Trp4949Arg) rs794728810
NM_001035.3(RYR2):c.1561G>A (p.Glu521Lys) rs759494098
NM_001035.3(RYR2):c.1641C>A (p.Asn547Lys) rs794728722
NM_001035.3(RYR2):c.1675A>G (p.Ile559Val) rs773609522
NM_001035.3(RYR2):c.1727A>G (p.His576Arg) rs794728818
NM_001035.3(RYR2):c.1775G>A (p.Gly592Glu) rs794728724
NM_001035.3(RYR2):c.1791T>G (p.Ile597Met) rs794728725
NM_001035.3(RYR2):c.1811A>G (p.His604Arg) rs1553470886
NM_001035.3(RYR2):c.1819A>T (p.Asn607Tyr) rs1064795614
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr) rs727504718
NM_001035.3(RYR2):c.1832T>C (p.Leu611Pro) rs794728726
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys) rs202040519
NM_001035.3(RYR2):c.1973A>G (p.Asn658Ser) rs2009813
NM_001035.3(RYR2):c.19G>A (p.Gly7Ser) rs779910353
NM_001035.3(RYR2):c.2038G>A (p.Asp680Asn) rs794728727
NM_001035.3(RYR2):c.2251A>G (p.Thr751Ala) rs878854154
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623
NM_001035.3(RYR2):c.226C>T (p.Arg76Trp) rs542777295
NM_001035.3(RYR2):c.2300_2301delinsGT (p.Ser767Cys) rs1553474603
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg) rs200121281
NM_001035.3(RYR2):c.2399T>C (p.Val800Ala) rs794728730
NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu) rs371157868
NM_001035.3(RYR2):c.2482C>T (p.Pro828Ser) rs794728698
NM_001035.3(RYR2):c.2507A>G (p.His836Arg) rs76474894
NM_001035.3(RYR2):c.2629C>T (p.His877Tyr) rs372575878
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys) rs201131315
NM_001035.3(RYR2):c.2716C>G (p.Pro906Ala) rs754520058
NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser) rs373665895
NM_001035.3(RYR2):c.2848G>T (p.Val950Leu) rs794728731
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser) rs202015519
NM_001035.3(RYR2):c.301A>G (p.Met101Val) rs754323182
NM_001035.3(RYR2):c.3025C>T (p.Arg1009Trp) rs368040638
NM_001035.3(RYR2):c.3037C>T (p.Arg1013Trp) rs777740439
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys) rs533330664
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258
NM_001035.3(RYR2):c.3163C>T (p.Arg1055Cys) rs754181384
NM_001035.3(RYR2):c.3164G>A (p.Arg1055His) rs757490010
NM_001035.3(RYR2):c.32T>C (p.Ile11Thr) rs794728760
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His) rs201312753
NM_001035.3(RYR2):c.3361G>C (p.Gly1121Arg) rs199682282
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.3(RYR2):c.3425C>T (p.Ala1142Val) rs772148152
NM_001035.3(RYR2):c.3449A>G (p.Glu1150Gly) rs754335935
NM_001035.3(RYR2):c.3478G>A (p.Asp1160Asn) rs1064794172
NM_001035.3(RYR2):c.349C>T (p.His117Tyr) rs1057524592
NM_001035.3(RYR2):c.3565G>A (p.Glu1189Lys) rs794728732
NM_001035.3(RYR2):c.3625G>A (p.Val1209Met) rs794728733
NM_001035.3(RYR2):c.364C>T (p.Arg122Cys) rs397516527
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile) rs185715460
NM_001035.3(RYR2):c.3823G>A (p.Gly1275Ser) rs769294223
NM_001035.3(RYR2):c.3844T>C (p.Cys1282Arg) rs1057518304
NM_001035.3(RYR2):c.3899T>C (p.Met1300Thr) rs772739688
NM_001035.3(RYR2):c.3950C>T (p.Thr1317Met) rs752107643
NM_001035.3(RYR2):c.3964C>A (p.Leu1322Ile) rs770433289
NM_001035.3(RYR2):c.4010A>G (p.Tyr1337Cys) rs765369749
NM_001035.3(RYR2):c.4096A>G (p.Thr1366Ala) rs369982130
NM_001035.3(RYR2):c.4229T>C (p.Leu1410Pro) rs794728734
NM_001035.3(RYR2):c.4307A>G (p.Gln1436Arg) rs1057524827
NM_001035.3(RYR2):c.4361A>G (p.Asp1454Gly) rs752212017
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His) rs373024059
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676
NM_001035.3(RYR2):c.4503C>A (p.Asn1501Lys) rs794728735
NM_001035.3(RYR2):c.4507A>G (p.Asn1503Asp) rs794728736
NM_001035.3(RYR2):c.4513C>G (p.Leu1505Val) rs1057518306
NM_001035.3(RYR2):c.4585A>C (p.Thr1529Pro) rs765195072
NM_001035.3(RYR2):c.458C>T (p.Thr153Ile) rs766802574
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile) rs201675951
NM_001035.3(RYR2):c.4733C>G (p.Pro1578Arg) rs765351308
NM_001035.3(RYR2):c.4736T>C (p.Val1579Ala) rs766750384
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser) rs200070226
NM_001035.3(RYR2):c.4780G>A (p.Val1594Ile) rs794728737
NM_001035.3(RYR2):c.4828C>T (p.Arg1610Ter) rs794728738
NM_001035.3(RYR2):c.4862G>A (p.Cys1621Tyr) rs1553521003
NM_001035.3(RYR2):c.4882A>G (p.Met1628Val) rs757286828
NM_001035.3(RYR2):c.4912T>A (p.Ser1638Thr) rs794728739
NM_001035.3(RYR2):c.4990G>T (p.Val1664Phe) rs749434532
NM_001035.3(RYR2):c.5096G>A (p.Arg1699His) rs779464111
NM_001035.3(RYR2):c.5288T>C (p.Phe1763Ser) rs1057518518
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219
NM_001035.3(RYR2):c.535G>A (p.Asp179Asn) rs794728709
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met) rs770863319
NM_001035.3(RYR2):c.5680C>T (p.Leu1894Phe) rs555692728
NM_001035.3(RYR2):c.5717T>C (p.Met1906Thr) rs748307254
NM_001035.3(RYR2):c.5761C>T (p.Arg1921Trp) rs760010432
NM_001035.3(RYR2):c.5762G>A (p.Arg1921Gln) rs370568809
NM_001035.3(RYR2):c.5821C>A (p.Arg1941Ser) rs754811291
NM_001035.3(RYR2):c.5836G>A (p.Glu1946Lys) rs267598436
NM_001035.3(RYR2):c.5857A>C (p.Met1953Leu) rs1057518592
NM_001035.3(RYR2):c.5878A>G (p.Arg1960Gly) rs794728741
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) rs200318013
NM_001035.3(RYR2):c.6017A>G (p.His2006Arg) rs1553528609
NM_001035.3(RYR2):c.6265C>T (p.His2089Tyr) rs1057524513
NM_001035.3(RYR2):c.6280G>A (p.Gly2094Ser) rs777365708
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598
NM_001035.3(RYR2):c.6445A>G (p.Ile2149Val) rs767258350
NM_001035.3(RYR2):c.6455A>G (p.Asn2152Ser) rs752288991
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001035.3(RYR2):c.6504C>G (p.His2168Gln) rs760237464
NM_001035.3(RYR2):c.6506A>G (p.Glu2169Gly) rs1064794183
NM_001035.3(RYR2):c.6515T>A (p.Met2172Lys) rs794728742
NM_001035.3(RYR2):c.6523A>G (p.Met2175Val) rs794728820
NM_001035.3(RYR2):c.6532G>A (p.Val2178Ile) rs794728821
NM_001035.3(RYR2):c.6707G>T (p.Gly2236Val) rs1553261760
NM_001035.3(RYR2):c.6958G>A (p.Val2320Met) rs1057522884
NM_001035.3(RYR2):c.7091C>T (p.Pro2364Leu) rs771170452
NM_001035.3(RYR2):c.7114C>A (p.Leu2372Ile) rs765925963
NM_001035.3(RYR2):c.7155G>T (p.Gly2385=) rs794728752
NM_001035.3(RYR2):c.727G>A (p.Glu243Lys) rs794728712
NM_001035.3(RYR2):c.728A>G (p.Glu243Gly) rs753663342
NM_001035.3(RYR2):c.754C>G (p.His252Asp) rs1064797065
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg) rs200105499
NM_001035.3(RYR2):c.7697G>A (p.Arg2566Gln) rs532016557
NM_001035.3(RYR2):c.7808C>T (p.Ala2603Val) rs752607318
NM_001035.3(RYR2):c.7855A>G (p.Lys2619Glu) rs794728758
NM_001035.3(RYR2):c.796G>A (p.Ala266Thr) rs373326624
NM_001035.3(RYR2):c.8041A>T (p.Met2681Leu) rs768547151
NM_001035.3(RYR2):c.8060G>A (p.Ser2687Asn) rs202020477
NM_001035.3(RYR2):c.812C>T (p.Ala271Val) rs794728714
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897
NM_001035.3(RYR2):c.8147A>T (p.Lys2716Ile) rs749618476
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134
NM_001035.3(RYR2):c.8205C>A (p.Asp2735Glu) rs794728823
NM_001035.3(RYR2):c.8209-3A>G rs376788358
NM_001035.3(RYR2):c.8262G>C (p.Gln2754His) rs773748242
NM_001035.3(RYR2):c.8378G>A (p.Arg2793Gln) rs559773178
NM_001035.3(RYR2):c.839T>C (p.Leu280Pro) rs794728716
NM_001035.3(RYR2):c.8408G>A (p.Arg2803Gln) rs780643623
NM_001035.3(RYR2):c.8414G>A (p.Arg2805His) rs1247067433
NM_001035.3(RYR2):c.8453C>T (p.Ala2818Val) rs794728759
NM_001035.3(RYR2):c.848+1G>A rs772984053
NM_001035.3(RYR2):c.848+2dup rs794728833
NM_001035.3(RYR2):c.8573_8578TGGAGT[1] (p.Leu2860_Glu2861del) rs794728835
NM_001035.3(RYR2):c.8696A>G (p.Asn2899Ser) rs1057524444
NM_001035.3(RYR2):c.8798T>G (p.Val2933Gly) rs550691734
NM_001035.3(RYR2):c.893G>A (p.Arg298His) rs754259295
NM_001035.3(RYR2):c.9071A>G (p.Asn3024Ser) rs970158129
NM_001035.3(RYR2):c.9085A>G (p.Ile3029Val) rs370141970
NM_001035.3(RYR2):c.9125C>A (p.Ala3042Glu) rs794728762
NM_001035.3(RYR2):c.9131C>T (p.Thr3044Ile) rs794728763
NM_001035.3(RYR2):c.9161A>G (p.Lys3054Arg) rs794728824
NM_001035.3(RYR2):c.9358G>C (p.Asp3120His) rs794728764
NM_001035.3(RYR2):c.9412T>C (p.Tyr3138His) rs794728765
NM_001035.3(RYR2):c.950T>C (p.Met317Thr) rs367601258
NM_001035.3(RYR2):c.9518C>T (p.Thr3173Ile) rs746161154
NM_001035.3(RYR2):c.9569G>A (p.Arg3190Gln) rs369276868
NM_001035.3(RYR2):c.9625C>A (p.Pro3209Thr) rs767375014
NM_001035.3(RYR2):c.963A>T (p.Lys321Asn) rs794728717
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744
NM_001035.3(RYR2):c.9911A>G (p.Gln3304Arg) rs794728766

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